Loeys-Dietz Syndrome Mutation Database
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Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
11 entries on 1 page. Showing entries 1 - 11.
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ID
Chr
Gene ID
Name
NCBI ID
NCBI Protein ID
Variants
00000012
18
SMAD2
transcript variant 1
NM_005901.5
NP_005892.1
9
00000007
15
SMAD3
transcript variant 1
NM_005902.3
NP_005893.1
98
00000009
15
SMAD3
transcript variant 3
NM_001145103.1
NP_001138575.1
0
00000008
15
SMAD3
transcript variant 2
NM_001145102.1
NP_001138574.1
0
00000010
15
SMAD3
transcript variant 4
NM_001145104.1
NP_001138576.1
0
00000006
1
TGFB2
transcript variant 2
NM_003238.3
NP_003229.1
1
00000005
1
TGFB2
transcript variant 1
NM_001135599.2
NP_001129071.1
73
00000013
14
TGFB3
transforming growth factor beta 3
NM_003239.3
NP_003230.1
53
00000011
9
TGFBR1
transcript variant 1
NM_004612.2
NP_004603.1
136
00000004
3
TGFBR2
transcript variant 2
NM_003242.5
NP_003233.4
243
00000003
3
TGFBR2
transcript variant 1
NM_001024847.2
NP_001020018.1
15
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